Variants studied for Pyruvate carboxylase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
75	105	239	913	44	2	1306

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
PC	73	104	235	902	43	2	1287
LOC130006142, PC	0	1	2	11	0	0	14
LOC130006147, PC	0	0	2	0	1	0	3
LRFN4, PC	2	0	0	0	0	0	2

Submitter and significance breakdown #

Total submitters: 29

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	60	15	139	901	42	0	1157
Illumina Laboratory Services, Illumina	0	0	73	9	7	0	89
Baylor Genetics	4	36	9	0	0	0	49
Myriad Genetics, Inc.	0	38	0	0	0	0	38
Counsyl	1	6	15	1	0	0	23
Fulgent Genetics, Fulgent Genetics	0	1	10	2	1	0	14
Revvity Omics, Revvity	1	1	10	0	0	0	12
OMIM	9	0	0	0	0	0	9
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	6	0	0	0	0	6
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	2	2	0	4
Mendelics	0	3	0	0	0	0	3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	1	2	0	0	0	0	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	1	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	2	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	1	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	0	0	2
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	0	1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	1	0	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	0	0	0	1
GenePathDx, GenePath diagnostics	0	1	0	0	0	0	1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	1	0	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1
3billion	0	1	0	0	0	0	1
Genomics England Pilot Project, Genomics England	0	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	0	1

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